Variant report

Variant	rs72753974
Chromosome Location	chr15:83477614-83477615
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr15:83477118-83477633	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr15:83477258-83478633	HEK293	kidney:	n/a	n/a
3	SRF	chr15:83477312-83477934	MCF-7	breast:	n/a	n/a
4	RFX5	chr15:83477087-83479037	SK-N-SH	brain:	n/a	chr15:83478322-83478331
5	POLR2A	chr15:83477394-83477820	GM12892	blood:	n/a	n/a
6	MAFK	chr15:83477461-83477721	HepG2	liver:	n/a	n/a
7	RCOR1	chr15:83477120-83479262	K562	blood:	n/a	n/a
8	POLR2A	chr15:83477429-83479340	GM15510	blood:	n/a	n/a
9	POLR2A	chr15:83477432-83477747	MCF-7	breast:	n/a	n/a
10	HCFC1	chr15:83477536-83480275	Hela-S3	cervix:	n/a	n/a
11	KAP1	chr15:83477330-83478610	U2OS	brain:	n/a	n/a
12	MAFF	chr15:83477469-83477752	HepG2	liver:	n/a	n/a
13	STAT3	chr15:83477379-83477630	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr15:83477567-83478690	HEK293	kidney:	n/a	n/a
15	POLR2A	chr15:83477350-83477694	HepG2	liver:	n/a	n/a
16	POLR2A	chr15:83477132-83479406	GM12892	blood:	n/a	n/a
17	MXI1	chr15:83477588-83480089	SK-N-SH	brain:	n/a	n/a
18	RCOR1	chr15:83477363-83479994	IMR90	lung:	n/a	n/a
19	POLR2A	chr15:83477438-83479464	Raji	blood:	n/a	n/a
20	SIN3AK20	chr15:83477125-83479915	MCF-7	breast:	n/a	n/a
21	SRF	chr15:83477420-83478004	MCF-7	breast:	n/a	n/a
22	JUND	chr15:83477384-83479128	K562	blood:	n/a	chr15:83478323-83478332
23	MAZ	chr15:83477476-83479604	IMR90	lung:	n/a	n/a
24	POLR2A	chr15:83477220-83477840	GM12892	blood:	n/a	n/a
25	POLR2A	chr15:83477137-83480078	GM18505	blood:	n/a	n/a
26	NFYA	chr15:83477373-83478659	Hela-S3	cervix:	n/a	chr15:83478319-83478334 chr15:83478319-83478332 chr15:83478319-83478333 chr15:83478319-83478334 chr15:83478321-83478331 chr15:83478236-83478254 chr15:83478241-83478255
27	POLR2A	chr15:83477228-83477764	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:83477608-83477658	PrEC	prostate:	n/a
2	chr15:83477608-83477658	HNPCEpiC	eye:	n/a
3	chr15:83477608-83477658	SKMC	muscle:	n/a
4	chr15:83477608-83477658	HIPEpiC	eye:	n/a
5	chr15:83477608-83477658	HepG2	liver:	n/a
6	chr15:83477608-83477658	HCM	heart:	n/a
7	chr15:83477608-83477658	HCPEpiC	choroid plexus:	n/a
8	chr15:83477608-83477658	AG10803	skin:	n/a
9	chr15:83477608-83477658	Hela-S3	cervix:	n/a
10	chr15:83477608-83477658	IMR90	lung:	fetal
11	chr15:83477608-83477658	HRCEpiC	kidney:	n/a
12	chr15:83477608-83477658	HMEC	breast:	n/a
13	chr15:83477608-83477658	MCF10A-Er-Src	breast:	n/a
14	chr15:83477608-83477658	HCF	heart:	n/a
15	chr15:83477608-83477658	GM19239	blood:	n/a
16	chr15:83477608-83477658	NHDF-neo	bronchial:	n/a
17	chr15:83477608-83477658	HRPEpiC	eye:	n/a
18	chr15:83477608-83477658	BJ	skin:	n/a
19	chr15:83477608-83477658	HAEpiC	amniotic membrane:	n/a
20	chr15:83477608-83477658	H1-hESC	embryonic stem cell:	embryo
21	chr15:83477608-83477658	ECC-1	luminal epithelium:	n/a
22	chr15:83477608-83477658	SK-N-SH	brain:	n/a
23	chr15:83477608-83477658	PANC-1	pancreas:	n/a
24	chr15:83477608-83477658	HCT-116	colon:	n/a
25	chr15:83477608-83477658	BE2_C	brain:	n/a
26	chr15:83477608-83477658	U87	brain:	n/a
27	chr15:83477608-83477658	HEK293	kidney:	embryo
28	chr15:83477608-83477658	RPTEC	kidney:	n/a
29	chr15:83477608-83477658	AG09309	skin:	n/a
30	chr15:83477608-83477658	CMK	blood:	n/a
31	chr15:83477608-83477658	LNCaP	prostate:	n/a
32	chr15:83477608-83477658	GM12891	blood:	n/a
33	chr15:83477608-83477658	HUVEC	blood vessel:	n/a
34	chr15:83477608-83477658	Caco-2	colon:	n/a
35	chr15:83477608-83477658	ProgFib	skin:	n/a
36	chr15:83477608-83477658	NB4	blood:	n/a
37	chr15:83477608-83477658	HRE	kidney:	n/a
38	chr15:83477608-83477658	K562	blood:	n/a
39	chr15:83477608-83477658	SK-N-SH_RA	brain:	n/a
40	chr15:83477608-83477658	Jurkat	blood:	n/a
41	chr15:83477608-83477658	AG04449	skin:	fetal
42	chr15:83477608-83477658	GM12878	blood:	n/a
43	chr15:83477608-83477658	AoSMC	blood vessel:	n/a
44	chr15:83477608-83477658	NH-A	brain:	n/a
45	chr15:83477608-83477658	Hepatocyte	liver:	n/a
46	chr15:83477608-83477658	T-47D	breast:	n/a
47	chr15:83477608-83477658	NHBE	bronchial:	n/a
48	chr15:83477608-83477658	GM12892	blood:	n/a
49	chr15:83477608-83477658	HEEpiC	esophagus:	n/a
50	chr15:83477608-83477658	AG04450	lung:	fetal

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83438498..83441390-chr15:83475483..83477867,2	K562	blood:
2	chr15:83423255..83426158-chr15:83477607..83479598,3	MCF-7	breast:
3	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:
4	chr15:83396804..83398373-chr15:83475659..83477740,2	MCF-7	breast:
5	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
6	chr15:83407361..83409606-chr15:83477408..83479472,2	MCF-7	breast:
7	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
8	chr15:83476033..83478214-chr15:83679893..83681510,2	K562	blood:
9	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
10	chr15:83477527..83479377-chr15:83517237..83519936,2	K562	blood:
11	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
12	chr15:83477529..83479377-chr15:83517237..83520056,3	K562	blood:
13	chr15:83477554..83479674-chr15:83486165..83489315,3	MCF-7	breast:
14	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
15	chr15:83348193..83350766-chr15:83477443..83480779,4	MCF-7	breast:
16	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:

No data

Variant related genes	Relation type
WHAMM	TF binding region
FSD2	TF binding region
FSD2	CpG island
WHAMM	CpG island
ENSG00000169609	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000214575	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000259315	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000259462	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000260608	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs3914699	1.00[AFR][1000 genomes]
rs72751668	1.00[AFR][1000 genomes]
rs72753906	1.00[AFR][1000 genomes]
rs72755928	1.00[AFR][1000 genomes]
rs72755935	1.00[AFR][1000 genomes]
rs72755947	1.00[AFR][1000 genomes]
rs72755959	1.00[AFR][1000 genomes]
rs72755962	1.00[AFR][1000 genomes]
rs72755971	1.00[AFR][1000 genomes]
rs7496832	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	esv3371602	chr15:83476798-83481096	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83471200-83478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:83472000-83477800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:83472400-83478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:83473600-83477800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:83475000-83478400	Weak transcription	Left Ventricle	heart
6	chr15:83475600-83477800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:83475600-83478000	Enhancers	Fetal Muscle Leg	muscle
8	chr15:83477000-83478000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr15:83477200-83477800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr15:83477200-83477800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr15:83477200-83477800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr15:83477200-83478000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr15:83477200-83478000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr15:83477200-83478200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr15:83477400-83477800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:83477400-83477800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:83477400-83477800	Enhancers	Primary B cells from peripheral blood	blood
18	chr15:83477400-83477800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr15:83477400-83477800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr15:83477400-83477800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:83477400-83477800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr15:83477400-83477800	Enhancers	Liver	Liver
23	chr15:83477400-83477800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:83477400-83477800	Enhancers	Colon Smooth Muscle	Colon
25	chr15:83477400-83477800	Enhancers	Placenta	Placenta
26	chr15:83477400-83477800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr15:83477400-83477800	Active TSS	Rectal Smooth Muscle	rectum
28	chr15:83477400-83477800	Enhancers	Right Ventricle	heart
29	chr15:83477400-83477800	Enhancers	Stomach Smooth Muscle	stomach
30	chr15:83477400-83477800	Bivalent/Poised TSS	HepG2	liver
31	chr15:83477400-83477800	Enhancers	HSMMtube	muscle
32	chr15:83477400-83478000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:83477400-83478000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr15:83477400-83478000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:83477400-83478000	Enhancers	Primary hematopoietic stem cells	blood
36	chr15:83477400-83478000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr15:83477400-83478000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr15:83477400-83478000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr15:83477400-83478000	Enhancers	Fetal Intestine Small	intestine
40	chr15:83477400-83478000	Enhancers	Fetal Muscle Trunk	muscle
41	chr15:83477400-83478000	Enhancers	Lung	lung
42	chr15:83477400-83478000	Enhancers	Pancreas	Pancrea
43	chr15:83477400-83478000	Enhancers	Thymus	Thymus
44	chr15:83477400-83478000	Enhancers	HMEC	breast
45	chr15:83477400-83478000	Enhancers	HSMM	muscle
46	chr15:83477400-83478200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:83477400-83478200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr15:83477400-83478200	Flanking Active TSS	Fetal Heart	heart
49	chr15:83477400-83478200	Flanking Active TSS	Dnd41	blood
50	chr15:83477400-83478200	Flanking Active TSS	GM12878-XiMat	blood

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